PABPC1L Chromosome 20

Poly(A) binding protein cytoplasmic 1 like
3 variants 3 Health Risk

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What This Gene Does
This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000101104
Associated Conditions (2)
Inherited oocyte maturation defect
Female infertility due to zona pellucida defect
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS185737007 Health Risk Conflicting classifications of pathogenicity
RS747094879 Health Risk Likely pathogenic Inherited oocyte maturation defect, Inherited oocyte maturation defect
RS750947314 Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
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